ArticleBMC medical genetics2012
Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Integrated fetal testicular transcriptomic and epigenomic profiles during maternal nutrient restriction with dietary melatonin intervention.Journal of animal science · 2026Article
- Reversion induced LIM domain protein (RIL) is a Daam1-interacting protein and regulator of the actin cytoskeleton during non-canonical Wnt signaling.Developmental biology · 2024Article
- De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.Human genomics · 2022Article
- The Mechanisms of Thin Filament Assembly and Length Regulation in Muscles.International journal of molecular sciences · 2022Review
- SNP and DNA methylation analyses of a monozygotic twins discordant for complete endocardial cushion defect: a case report.American journal of translational research · 2022Article
- Formins in Human Disease.Cells · 2021Review
- Actin-associated proteins and cardiomyopathy-the 'unknown' beyond troponin and tropomyosin.Biophysical reviews · 2018Review
- The activities of the C-terminal regions of the formin protein disheveled-associated activator of morphogenesis (DAAM) in actin dynamics.The Journal of biological chemistry · 2017Article
- Daam1 regulates fascin for actin assembly in mouse oocyte meiosis.Cell cycle (Georgetown, Tex.) · 2017Article
- Implication of overexpression of dishevelled-associated activator of morphogenesis 1 (Daam-1) for the pathogenesis of human Idiopathic Pulmonary Arterial Hypertension (IPAH).Diagnostic pathology · 2017Article
- Molecular mechanism of ventricular trabeculation/compaction and the pathogenesis of the left ventricular noncompaction cardiomyopathy (LVNC).American journal of medical genetics. Part C, Seminars in medical genetics · 2013Review
- Karyotypic and molecular genetic changes associated with fetal cardiovascular abnormalities: results of a retrospective 4-year ultrasonic diagnosis study.International journal of biological sciences · 2013Article
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5 authors.
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Abstract
backgroundWith an increasing incidence of congenital heart defects (CHDs) in recent years, genotype-phenotype correlation and array-based methods have contributed to the genome-wide analysis and understanding of genetic variations in the CHD population. Here, we report a copy number deletion of chromosomal 14q23.1 in a female fetus with complex congenital heart defects. This is the first description of DAAM1 gene deletion associated with congenital heart anomalies. CASE PRESENTATION: Compared with the control population, one CHD fetus showed a unique copy number deletion of 14q23.1, a region that harbored DAAM1 and KIAA0666 genes.
conclusionsResults suggest that the copy number deletion on chromosome 14q23.1 may be critical for cardiogenesis. However, the exact relationship and mechanism of how DAAM1 and KIAA0666 deletion contributes to the onset of CHD is yet to be determined.
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